A curated catalogue of human genomic structural variation




Variant Details

Variant: esv11962



Internal ID11029196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:106692362..106778883hg38UCSC Ensembl
Innerchr14:107148379..107187122hg19UCSC Ensembl
Innerchr14:106219424..106258167hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3886522
hg1938744
hg1838744
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27023
Supporting Variantsessv35169, essv61922, essv81956, essv39073, essv71416, essv46138, essv41519, essv66923, essv47573, essv37960, essv37206, essv72044, essv53313, essv58349, essv49824, essv42856, essv52188, essv82682, essv33101, essv79460, essv73968, essv34300
SamplesNA18502, NA18861, NA18508, NA19190, NA18916, NA12287, NA12156, NA12828, NA18907, NA19114, NA11894, NA12239, NA19257, NA19225, NA18909, NA19108, NA19147, NA18517, NA12749, NA18505, NA19129, NA12006
Known Genes
MethodOligo aCGH
AnalysisSegment log2 ratios from each sample. This was done running the GADA algorithm (Pique-Regi et al., 2008) using the options "-M 10 -T 10 -a 2.5". Filter non-CNV segments using intensity thresholds. Merge remaining CNV "calls" within each sample. Adjacent calls of the same direction (gain or loss) are merged if both: the distance between calls is less than 10kb, and the distance between calls is less than 10% of the size of the largest of the two calls.
PlatformSanger H. Sapiens 42mCGH Array 5781_53 726K v1
Comments
ReferenceConrad_et_al_2009
Pubmed ID19812545
Accession Number(s)esv11962
Frequency
Sample Size40
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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